A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563485



Internal ID7036527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:67757286..67762916hg38UCSC Ensembl
OuterchrX:66977128..66982758hg19UCSC Ensembl
OuterchrX:66893853..66899483hg18UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg382692
hg192692
hg182692
Variant TypeCNV insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv998240
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563485
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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